Canonical Allele Identifier: CA10247974

Gene: ADSL

Linked Data

• ClinVar Variation Id: 391918
• ClinVar RCV Id: RCV000435716 ; RCV000696181
• dbSNP Id: rs758241731
• ExAC: 22:40760971 A / G
• gnomAD v2: 22-40760971-A-G
• gnomAD v3: 22-40364967-A-G
• gnomAD v4: 22-40364967-A-G
• MyVariant Identifiers: chr22:g.40760971A>G (hg19) ; chr22:g.40364967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364967A>G , CM000684.2:g.40364967A>G	GRCh38
NC_000022.10:g.40760971A>G , CM000684.1:g.40760971A>G	GRCh37
NC_000022.9:g.39090917A>G	NCBI36
NG_007993.1:g.23468A>G
NG_007993.2:g.23468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*673A>G	ENSP00000485462.2:n.*673A>G
ENST00000623287.4:c.*704A>G	ENSP00000485437.1:n.*704A>G
ENST00000623632.4:c.970A>G	ENSP00000485288.2:p.Ile324Val
ENST00000625194.4:c.1321A>G	ENSP00000485289.2:p.Ile441Val
ENST00000636433.1:n.1301A>G
ENST00000636714.1:c.1279A>G	ENSP00000490946.1:p.Ile427Val
ENST00000637666.2:c.1191+602A>G	ENSP00000489696.2:n.1191+602A>G
ENST00000637669.1:c.1279A>G	ENSP00000489728.1:p.Ile427Val
ENST00000639722.1:c.*975A>G	ENSP00000492828.1:n.*975A>G
ENST00000674592.1:n.2793A>G
ENST00000675622.1:n.4346A>G
ENST00000679609.1:c.*889A>G	ENSP00000506592.1:n.*889A>G
ENST00000679656.1:n.1964A>G
ENST00000679723.1:c.1234A>G	ENSP00000505155.1:p.Ile412Val
ENST00000679845.1:n.1587A>G
ENST00000679904.1:n.1675A>G
ENST00000680378.1:c.1366A>G	ENSP00000505556.1:p.Ile456Val
ENST00000680444.1:c.*642A>G	ENSP00000505298.1:n.*642A>G
ENST00000680978.1:c.1279A>G	ENSP00000505244.1:p.Ile427Val
ENST00000681003.1:n.742A>G
ENST00000681159.1:n.2683A>G
ENST00000216194.11:c.1321A>G	ENSP00000216194.8:p.Ile441Val
ENST00000342312.9:c.1191+602A>G	ENSP00000341429.6:n.1191+602A>G
ENST00000423176.6:c.6A>G
ENST00000623063.3:c.1279A>G MANE Select	ENSP00000485525.1:p.Ile427Val
ENST00000623387.1:n.410A>G
ENST00000623869.3:c.10A>G	ENSP00000485211.1:p.Ile4Val
ENST00000624027.1:c.6A>G
ENST00000625194.3:c.908A>G
NM_000026.2:c.1279A>G	NP_000017.1:p.Ile427Val
NM_001123378.1:c.1191+602A>G	NP_001116850.1:n.1191+602A>G
XM_011529976.1:c.1279A>G	XP_011528278.1:p.Ile427Val
XM_011529977.1:c.1279A>G	XP_011528279.1:p.Ile427Val
XM_011529978.1:c.1191+602A>G	XP_011528280.1:n.1191+602A>G
XM_011529979.1:c.1279A>G	XP_011528281.1:p.Ile427Val
XM_011529980.1:c.1191+602A>G	XP_011528282.1:n.1191+602A>G
XM_011529981.1:c.814A>G	XP_011528283.1:p.Ile272Val
XM_011529982.1:c.448A>G	XP_011528284.1:p.Ile150Val
XR_937824.1:n.1369A>G
XR_937825.1:n.1281+602A>G
NM_000026.3:c.1279A>G	NP_000017.1:p.Ile427Val
NM_001123378.2:c.1191+602A>G	NP_001116850.1:n.1191+602A>G
NM_001317923.1:c.1087A>G	NP_001304852.1:p.Ile363Val
NM_001363840.1:c.1279A>G	NP_001350769.1:p.Ile427Val
NR_134256.1:n.1369A>G
XM_011529977.3:c.1279A>G	XP_011528279.1:p.Ile427Val
XM_011529980.3:c.1191+602A>G	XP_011528282.1:n.1191+602A>G
XM_017028636.1:c.1234A>G	XP_016884125.1:p.Ile412Val
XM_017028637.1:c.1234A>G	XP_016884126.1:p.Ile412Val
XM_017028638.1:c.814A>G	XP_016884127.1:p.Ile272Val
XM_017028639.2:c.814A>G	XP_016884128.1:p.Ile272Val
XM_017028640.1:c.448A>G	XP_016884129.1:p.Ile150Val
XM_024452166.1:c.1146+602A>G	XP_024307934.1:n.1146+602A>G
XR_001755176.2:n.1521A>G
XR_002958670.1:n.1306A>G
XR_937825.3:n.1279+602A>G
NM_000026.4:c.1279A>G MANE Select	NP_000017.1:p.Ile427Val
NM_001363840.2:c.1279A>G	NP_001350769.1:p.Ile427Val
NM_001123378.3:c.1191+602A>G	NP_001116850.1:n.1191+602A>G
NM_001317923.2:c.1087A>G	NP_001304852.1:p.Ile363Val
NM_001363840.3:c.1279A>G	NP_001350769.1:p.Ile427Val
NR_134256.2:n.1369A>G